Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease

We describe a boy who developed autoinflammatory (chronic sterile multifocal osteomyelitis) and autoimmune (autoimmune cytopenias; vitiligo) phenotypes who subsequently developed disseminated granulomatous disease. Whole exome sequencing revealed homozygous RAG1 mutations thus expanding the spectrum...

Full beskrivning

Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: Reiff, Andreas, Bassuk, Alexander G., Church, Joseph A., Campbell, Elizabeth, Bing, Xinyu, Ferguson, Polly J.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer US 2013
Ämnen:
Astute Clinician Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3873094/
https://ncbi.nlm.nih.gov/pubmed/24122031
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-013-9953-7
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk